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dbVar

Database of genomic structural variation

nsv3318954

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:10,288

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: 203 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):54,374,776-54,385,063

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318954	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	54,374,776	54,385,063
nsv3318954	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	54,408,688	54,418,975

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468248	copy number loss	M2136	SNP array	SNP genotyping analysis	54
nssv14470251	copy number loss	M2323	SNP array	SNP genotyping analysis	19
nssv14470682	copy number loss	M2369	SNP array	SNP genotyping analysis	22
nssv14471244	copy number loss	M2425	SNP array	SNP genotyping analysis	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468248	Remapped	Perfect	NC_000016.10:g.(?_ 54374776)_(5438506 3_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	54,374,776	54,385,063
nssv14470251	Remapped	Perfect	NC_000016.10:g.(?_ 54374776)_(5438506 3_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	54,374,776	54,385,063
nssv14470682	Remapped	Perfect	NC_000016.10:g.(?_ 54374776)_(5438506 3_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	54,374,776	54,385,063
nssv14471244	Remapped	Perfect	NC_000016.10:g.(?_ 54374776)_(5438506 3_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	54,374,776	54,385,063
nssv14468248	Submitted genomic		NC_000016.9:g.(?_5 4408688)_(54418975 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	54,408,688	54,418,975
nssv14470251	Submitted genomic		NC_000016.9:g.(?_5 4408688)_(54418975 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	54,408,688	54,418,975
nssv14470682	Submitted genomic		NC_000016.9:g.(?_5 4408688)_(54418975 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	54,408,688	54,418,975
nssv14471244	Submitted genomic		NC_000016.9:g.(?_5 4408688)_(54418975 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	54,408,688	54,418,975

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

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