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dbVar

Database of genomic structural variation

nsv6624109

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:851,079

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: 2808 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):73,843,612-74,694,690

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624109	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	73,843,612	74,694,690
nsv6624109	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	71,839,751	72,690,829

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18288484	duplication	OSC3199	SNP array	Probe signal intensity	5
nssv18288995	duplication	OSC3343	SNP array	Probe signal intensity	nssv18289052, nssv18288996, nssv18288694
nssv18320852	duplication	OSC0975	SNP array	Probe signal intensity	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18288484	Remapped	Perfect	NC_000017.11:g.(?_ 73843612)_(7469469 0_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	73,843,612	74,694,690
nssv18288995	Remapped	Perfect	NC_000017.11:g.(?_ 73843612)_(7469469 0_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	73,843,612	74,694,690
nssv18320852	Remapped	Perfect	NC_000017.11:g.(?_ 73843612)_(7469469 0_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	73,843,612	74,694,690
nssv18288484	Submitted genomic		NC_000017.10:g.(?_ 71839751)_(7269082 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	71,839,751	72,690,829
nssv18288995	Submitted genomic		NC_000017.10:g.(?_ 71839751)_(7269082 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	71,839,751	72,690,829
nssv18320852	Submitted genomic		NC_000017.10:g.(?_ 71839751)_(7269082 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	71,839,751	72,690,829

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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