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dbVar

Database of genomic structural variation

nsv3318353

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:12,918

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: 257 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):79,226,868-79,239,785

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318353	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	79,226,868	79,239,785
nsv3318353	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	79,260,765	79,273,682

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14469327	copy number loss	M2225	SNP array	SNP genotyping analysis	19
nssv14470594	copy number loss	M2361	SNP array	SNP genotyping analysis	25
nssv14471329	copy number gain	M2433	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
nssv14469327	Remapped	Perfect	NC_000016.10:g.(?_ 79226868)_(7923978 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	79,226,868	79,239,785
nssv14470594	Remapped	Perfect	NC_000016.10:g.(?_ 79226868)_(7923978 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	79,226,868	79,239,785
nssv14471329	Remapped	Perfect	NC_000016.10:g.(?_ 79226868)_(7923978 5_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	79,226,868	79,239,785
nssv14469327	Submitted genomic		NC_000016.9:g.(?_7 9260765)_(79273682 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	79,260,765	79,273,682
nssv14470594	Submitted genomic		NC_000016.9:g.(?_7 9260765)_(79273682 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	79,260,765	79,273,682
nssv14471329	Submitted genomic		NC_000016.9:g.(?_7 9260765)_(79273682 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	79,260,765	79,273,682

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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