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dbVar

Database of genomic structural variation

nsv3318479

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:17,091

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: 323 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):6,277,212-6,294,302

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318479	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	6,277,212	6,294,302
nsv3318479	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	6,318,899	6,335,989

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468780	copy number gain	M2180	SNP array	SNP genotyping analysis	12
nssv14469385	copy number gain	M2231	SNP array	SNP genotyping analysis	18
nssv14470242	copy number gain	M2322	SNP array	SNP genotyping analysis	16
nssv14470759	copy number gain	M2373	SNP array	SNP genotyping analysis	15
nssv14471689	copy number gain	M2477	SNP array	SNP genotyping analysis	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468780	Remapped	Perfect	NC_000003.12:g.(?_ 6277212)_(6294302_ ?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	6,277,212	6,294,302
nssv14469385	Remapped	Perfect	NC_000003.12:g.(?_ 6277212)_(6294302_ ?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	6,277,212	6,294,302
nssv14470242	Remapped	Perfect	NC_000003.12:g.(?_ 6277212)_(6294302_ ?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	6,277,212	6,294,302
nssv14470759	Remapped	Perfect	NC_000003.12:g.(?_ 6277212)_(6294302_ ?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	6,277,212	6,294,302
nssv14471689	Remapped	Perfect	NC_000003.12:g.(?_ 6277212)_(6294302_ ?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	6,277,212	6,294,302
nssv14468780	Submitted genomic		NC_000003.11:g.(?_ 6318899)_(6335989_ ?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	6,318,899	6,335,989
nssv14469385	Submitted genomic		NC_000003.11:g.(?_ 6318899)_(6335989_ ?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	6,318,899	6,335,989
nssv14470242	Submitted genomic		NC_000003.11:g.(?_ 6318899)_(6335989_ ?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	6,318,899	6,335,989
nssv14470759	Submitted genomic		NC_000003.11:g.(?_ 6318899)_(6335989_ ?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	6,318,899	6,335,989
nssv14471689	Submitted genomic		NC_000003.11:g.(?_ 6318899)_(6335989_ ?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	6,318,899	6,335,989

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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