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dbVar

Database of genomic structural variation

nsv6623200

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:604,231

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: 2373 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):29,584,162-30,188,392

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6623200	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,584,162	30,188,392
nsv6623200	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,595,483	30,199,713

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18284046	deletion	OSC2444	SNP array	Probe signal intensity	6
nssv18319219	duplication	OSC8624	SNP array	Probe signal intensity	5
nssv18324572	deletion	OSC1650	SNP array	Probe signal intensity	nssv18324570, nssv18324571, nssv18324573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18284046	Remapped	Perfect	NC_000016.10:g.(?_ 29584162)_(3018839 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,584,162	30,188,392
nssv18319219	Remapped	Perfect	NC_000016.10:g.(?_ 29584162)_(3018839 2_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,584,162	30,188,392
nssv18324572	Remapped	Perfect	NC_000016.10:g.(?_ 29584162)_(3018839 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,584,162	30,188,392
nssv18284046	Submitted genomic		NC_000016.9:g.(?_2 9595483)_(30199713 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	29,595,483	30,199,713
nssv18319219	Submitted genomic		NC_000016.9:g.(?_2 9595483)_(30199713 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	29,595,483	30,199,713
nssv18324572	Submitted genomic		NC_000016.9:g.(?_2 9595483)_(30199713 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	29,595,483	30,199,713

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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