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dbVar

Database of genomic structural variation

nsv6624254

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:350,038

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: 958 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):52,886,567-53,236,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624254	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	52,886,567	53,236,604
nsv6624254	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	50,963,927	51,313,965

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18292096	deletion	OSC3792	SNP array	Probe signal intensity	8
nssv18319038	deletion	OSC0903	SNP array	Probe signal intensity	8
nssv18321104	deletion	OSC1159	SNP array	Probe signal intensity	11
nssv18321754	deletion	OSC1174	SNP array	Probe signal intensity	nssv18321134, nssv18321755

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18292096	Remapped	Perfect	NC_000017.11:g.(?_ 52886567)_(5323660 4_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	52,886,567	53,236,604
nssv18319038	Remapped	Perfect	NC_000017.11:g.(?_ 52886567)_(5323660 4_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	52,886,567	53,236,604
nssv18321104	Remapped	Perfect	NC_000017.11:g.(?_ 52886567)_(5323660 4_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	52,886,567	53,236,604
nssv18321754	Remapped	Perfect	NC_000017.11:g.(?_ 52886567)_(5323660 4_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	52,886,567	53,236,604
nssv18292096	Submitted genomic		NC_000017.10:g.(?_ 50963927)_(5131396 5_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	50,963,927	51,313,965
nssv18319038	Submitted genomic		NC_000017.10:g.(?_ 50963927)_(5131396 5_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	50,963,927	51,313,965
nssv18321104	Submitted genomic		NC_000017.10:g.(?_ 50963927)_(5131396 5_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	50,963,927	51,313,965
nssv18321754	Submitted genomic		NC_000017.10:g.(?_ 50963927)_(5131396 5_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	50,963,927	51,313,965

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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