nsv3317759

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:8,518

Publication(s):Frenkel et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 244 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):65,961,075-65,969,592

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317759	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nsv3317759	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	66,188,209	66,196,726

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467665	copy number loss	M1206	SNP array	SNP genotyping analysis	63
nssv14469163	copy number loss	M2210	SNP array	SNP genotyping analysis	15
nssv14469178	copy number loss	M2212	SNP array	SNP genotyping analysis	15
nssv14469628	copy number loss	M2255	SNP array	SNP genotyping analysis	20
nssv14469761	copy number loss	M2266	SNP array	SNP genotyping analysis	28
nssv14470115	copy number loss	M2309	SNP array	SNP genotyping analysis	18
nssv14470389	copy number loss	M2337	SNP array	SNP genotyping analysis	36
nssv14470740	copy number loss	M2372	SNP array	SNP genotyping analysis	17
nssv14470908	copy number loss	M2391	SNP array	SNP genotyping analysis	18
nssv14470923	copy number loss	M2393	SNP array	SNP genotyping analysis	18
nssv14471585	copy number loss	M2464	SNP array	SNP genotyping analysis	22
nssv14471809	copy number loss	M2495	SNP array	SNP genotyping analysis	13

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467665	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14469163	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14469178	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14469628	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14469761	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14470115	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14470389	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14470740	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14470908	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14470923	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14471585	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14471809	Remapped	Perfect	NC_000002.12:g.(?_ 65961075)_(6596959 2_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,961,075	65,969,592
nssv14467665	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14469163	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14469178	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14469628	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14469761	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14470115	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14470389	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14470740	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14470908	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14470923	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14471585	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726
nssv14471809	Submitted genomic		NC_000002.11:g.(?_ 66188209)_(6619672 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,188,209	66,196,726

dbVar

Database of genomic structural variation

nsv3317759

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant