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dbVar

Database of genomic structural variation

nsv6624996

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:54,562

Publication(s):Zarrei et al. 2023

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: 1907 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):42,960,729-43,015,290

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624996	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nsv6624996	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	43,464,881	43,519,442

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18281835	deletion	OSC0019	SNP array	Probe signal intensity	6
nssv18292846	duplication	OSC4081	SNP array	Probe signal intensity	9
nssv18295843	duplication	OSC4515	SNP array	Probe signal intensity	8
nssv18321040	deletion	OSC0109	SNP array	Probe signal intensity	6
nssv18322106	deletion	OSC1217	SNP array	Probe signal intensity	9
nssv18324784	deletion	OSC1810	SNP array	Probe signal intensity	6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18281835	Remapped	Perfect	NC_000019.10:g.(?_ 42960729)_(4301529 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nssv18292846	Remapped	Perfect	NC_000019.10:g.(?_ 42960729)_(4301529 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nssv18295843	Remapped	Perfect	NC_000019.10:g.(?_ 42960729)_(4301529 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nssv18321040	Remapped	Perfect	NC_000019.10:g.(?_ 42960729)_(4301529 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nssv18322106	Remapped	Perfect	NC_000019.10:g.(?_ 42960729)_(4301529 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nssv18324784	Remapped	Perfect	NC_000019.10:g.(?_ 42960729)_(4301529 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,960,729	43,015,290
nssv18281835	Submitted genomic		NC_000019.9:g.(?_4 3464881)_(43519442 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	43,464,881	43,519,442
nssv18292846	Submitted genomic		NC_000019.9:g.(?_4 3464881)_(43519442 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,464,881	43,519,442
nssv18295843	Submitted genomic		NC_000019.9:g.(?_4 3464881)_(43519442 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,464,881	43,519,442
nssv18321040	Submitted genomic		NC_000019.9:g.(?_4 3464881)_(43519442 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	43,464,881	43,519,442
nssv18322106	Submitted genomic		NC_000019.9:g.(?_4 3464881)_(43519442 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	43,464,881	43,519,442
nssv18324784	Submitted genomic		NC_000019.9:g.(?_4 3464881)_(43519442 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	43,464,881	43,519,442

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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