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dbVar

Database of genomic structural variation

nsv4382648

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:86,425

Publication(s):Zarrei 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: 1604 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):294,713-381,137

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4382648	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	294,713	381,137
nsv4382648	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	294,713	381,137

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15630675	copy number loss	1-0600-004	SNP array	Genotyping	15
nssv15635168	copy number loss	13-0031-002	SNP array	Genotyping	22
nssv15638483	copy number loss	14-0135-005	SNP array	Genotyping	22
nssv15671131	copy number gain	7-0301-003	SNP array	Genotyping	25
nssv15677202	copy number loss	235981S	SNP array	Genotyping	23
nssv15678419	copy number loss	192846	SNP array	Genotyping	24
nssv15692838	copy number loss	OCD73-896563	SNP array	Genotyping	21
nssv15700349	copy number gain	201550	SNP array	Genotyping	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15630675	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15635168	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15638483	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15671131	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15677202	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15678419	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15692838	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15700349	Remapped	Perfect	NC_000006.12:g.(?_ 294713)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	294,713	381,137
nssv15630675	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15635168	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15638483	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15671131	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15677202	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15678419	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15692838	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137
nssv15700349	Submitted genomic		NC_000006.11:g.(?_ 294713)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	294,713	381,137

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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