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dbVar

Database of genomic structural variation

nsv2785465

Organism: Homo sapiens

Study:nstd132 (Walker et al. 2017)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:181,290

Publication(s):Walker et al. 2017

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: 869 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):31,765,689-31,945,081

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv2785465	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,765,689	31,945,081
nsv2785465	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	3,064,981	3,246,270
nsv2785465	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	3,013,463	3,192,861
nsv2785465	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_167244.2	Chr6\|NT_16 7244.2	3,098,301	3,230,407
nsv2785465	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,733,466	31,912,858
nsv2785465	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_3	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	3,019,048	3,198,446
nsv2785465	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_7	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	3,064,279	3,245,568
nsv2785465	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_1	Second Pass	NT_167244.1	Chr6\|NT_16 7244.1	3,048,217	3,180,323
nsv2785465	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	31,841,445	32,020,837

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv13671156	copy number loss	CGPQ-218	SNP array	Genotyping	42

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv13671156	Remapped	Good	NT_167249.2:g.(?_3 064981)_(3246270_? )del	GRCh38.p12	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	3,064,981	3,246,270
nssv13671156	Remapped	Good	NT_167245.2:g.(?_3 013463)_(3192861_? )del	GRCh38.p12	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	3,013,463	3,192,861
nssv13671156	Remapped	Pass	NT_167244.2:g.(?_3 098301)_(3230407_? )del	GRCh38.p12	Second Pass	NT_167244.2	Chr6\|NT_16 7244.2	3,098,301	3,230,407
nssv13671156	Remapped	Perfect	NC_000006.12:g.(?_ 31765689)_(3194508 1_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,765,689	31,945,081
nssv13671156	Remapped	Good	NT_167245.1:g.(?_3 019048)_(3198446_? )delNT_167245.1:g. (?_3019048)_(31984 46_?)del	GRCh37.p13	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	3,019,048	3,198,446
nssv13671156	Remapped	Pass	NT_167244.1:g.(?_3 048217)_(3180323_? )del	GRCh37.p13	Second Pass	NT_167244.1	Chr6\|NT_16 7244.1	3,048,217	3,180,323
nssv13671156	Remapped	Good	NT_167249.1:g.(?_3 064279)_(3245568_? )del	GRCh37.p13	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	3,064,279	3,245,568
nssv13671156	Remapped	Perfect	NC_000006.11:g.(?_ 31733466)_(3191285 8_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,733,466	31,912,858
nssv13671156	Submitted genomic		NC_000006.10:g.(?_ 31841445)_(3202083 7_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	31,841,445	32,020,837

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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