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dbVar

Database of genomic structural variation

nsv3317382

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:25,723

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: 744 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):70,136,283-70,162,005

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	70,136,283	70,162,005
nsv3317382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	70,170,186	70,195,908

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468870	copy number loss	M2187	SNP array	SNP genotyping analysis	20
nssv14469402	copy number loss	M2233	SNP array	SNP genotyping analysis	9
nssv14469906	copy number loss	M2286	SNP array	SNP genotyping analysis	17
nssv14470163	copy number loss	M2318	SNP array	SNP genotyping analysis	12
nssv14470426	copy number loss	M2340	SNP array	SNP genotyping analysis	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468870	Remapped	Perfect	NC_000016.10:g.(?_ 70136283)_(7016200 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,136,283	70,162,005
nssv14469402	Remapped	Perfect	NC_000016.10:g.(?_ 70136283)_(7016200 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,136,283	70,162,005
nssv14469906	Remapped	Perfect	NC_000016.10:g.(?_ 70136283)_(7016200 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,136,283	70,162,005
nssv14470163	Remapped	Perfect	NC_000016.10:g.(?_ 70136283)_(7016200 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,136,283	70,162,005
nssv14470426	Remapped	Perfect	NC_000016.10:g.(?_ 70136283)_(7016200 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,136,283	70,162,005
nssv14468870	Submitted genomic		NC_000016.9:g.(?_7 0170186)_(70195908 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	70,170,186	70,195,908
nssv14469402	Submitted genomic		NC_000016.9:g.(?_7 0170186)_(70195908 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	70,170,186	70,195,908
nssv14469906	Submitted genomic		NC_000016.9:g.(?_7 0170186)_(70195908 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	70,170,186	70,195,908
nssv14470163	Submitted genomic		NC_000016.9:g.(?_7 0170186)_(70195908 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	70,170,186	70,195,908
nssv14470426	Submitted genomic		NC_000016.9:g.(?_7 0170186)_(70195908 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	70,170,186	70,195,908

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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