Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv2787160

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:101,126

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: 411 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):31,705,659-31,806,767

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv2787160	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,705,659	31,806,767
nsv2787160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,047,532	3,148,657
nsv2787160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	2,953,423	3,054,542
nsv2787160	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_167244.2	Chr6\|NT_16 7244.2	3,087,568	3,139,379
nsv2787160	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,673,436	31,774,544
nsv2787160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_3	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	2,959,008	3,060,127
nsv2787160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_5	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,053,117	3,154,242
nsv2787160	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_1	Second Pass	NT_167244.1	Chr6\|NT_16 7244.1	3,037,484	3,089,295
nsv2787160	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	31,781,415	31,882,523

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv13670338	copy number loss	CGPQ-243	SNP array	Genotyping	82

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv13670338	Remapped	Good	NT_167247.2:g.(?_3 047532)_(3148657_? )del	GRCh38.p12	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,047,532	3,148,657
nssv13670338	Remapped	Good	NT_167245.2:g.(?_2 953423)_(3054542_? )del	GRCh38.p12	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	2,953,423	3,054,542
nssv13670338	Remapped	Pass	NT_167244.2:g.(?_3 087568)_(3139379_? )del	GRCh38.p12	Second Pass	NT_167244.2	Chr6\|NT_16 7244.2	3,087,568	3,139,379
nssv13670338	Remapped	Perfect	NC_000006.12:g.(?_ 31705659)_(3180676 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,705,659	31,806,767
nssv13670338	Remapped	Good	NT_167245.1:g.(?_2 959008)_(3060127_? )delNT_167245.1:g. (?_2959008)_(30601 27_?)del	GRCh37.p13	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	2,959,008	3,060,127
nssv13670338	Remapped	Pass	NT_167244.1:g.(?_3 037484)_(3089295_? )del	GRCh37.p13	Second Pass	NT_167244.1	Chr6\|NT_16 7244.1	3,037,484	3,089,295
nssv13670338	Remapped	Good	NT_167247.1:g.(?_3 053117)_(3154242_? )delNT_167247.1:g. (?_3053117)_(31542 42_?)del	GRCh37.p13	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,053,117	3,154,242
nssv13670338	Remapped	Perfect	NC_000006.11:g.(?_ 31673436)_(3177454 4_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,673,436	31,774,544
nssv13670338	Submitted genomic		NC_000006.10:g.(?_ 31781415)_(3188252 3_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	31,781,415	31,882,523

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

You are here: NCBI