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dbVar

Database of genomic structural variation

nsv4366739

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:72,530

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: 2581 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):78,259,387-78,331,916

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4366739	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nsv4366739	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	78,969,104	79,041,633

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15614683	copy number loss	1-0738-003	SNP array	Genotyping	28
nssv15631218	copy number loss	1-0092-002	SNP array	Genotyping	30
nssv15652014	copy number loss	2-1508-002	SNP array	Genotyping	17
nssv15661235	copy number loss	5-0061-001	SNP array	Genotyping	21
nssv15688419	copy number gain	OCD50-0625-7269-3	SNP array	Genotyping	23
nssv15698383	copy number loss	165194	SNP array	Genotyping	29

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15614683	Remapped	Perfect	NC_000006.12:g.(?_ 78259387)_(7833191 6_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nssv15631218	Remapped	Perfect	NC_000006.12:g.(?_ 78259387)_(7833191 6_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nssv15652014	Remapped	Perfect	NC_000006.12:g.(?_ 78259387)_(7833191 6_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nssv15661235	Remapped	Perfect	NC_000006.12:g.(?_ 78259387)_(7833191 6_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nssv15688419	Remapped	Perfect	NC_000006.12:g.(?_ 78259387)_(7833191 6_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nssv15698383	Remapped	Perfect	NC_000006.12:g.(?_ 78259387)_(7833191 6_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,387	78,331,916
nssv15614683	Submitted genomic		NC_000006.11:g.(?_ 78969104)_(7904163 3_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,969,104	79,041,633
nssv15631218	Submitted genomic		NC_000006.11:g.(?_ 78969104)_(7904163 3_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,969,104	79,041,633
nssv15652014	Submitted genomic		NC_000006.11:g.(?_ 78969104)_(7904163 3_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,969,104	79,041,633
nssv15661235	Submitted genomic		NC_000006.11:g.(?_ 78969104)_(7904163 3_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,969,104	79,041,633
nssv15688419	Submitted genomic		NC_000006.11:g.(?_ 78969104)_(7904163 3_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	78,969,104	79,041,633
nssv15698383	Submitted genomic		NC_000006.11:g.(?_ 78969104)_(7904163 3_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,969,104	79,041,633

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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