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dbVar

Database of genomic structural variation

nsv884038

Organism: Homo sapiens

Study:nstd71 (Xu et al. 2011)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,488

Publication(s):Xu et al. 2011

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: 406 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):29,961,476-29,969,963

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv884038	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	29,961,476	29,962,051	29,969,764	29,969,963
nsv884038	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	1,222,227	1,222,227	1,230,697	1,230,697
nsv884038	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	1,305,531	1,305,531	1,314,006	1,314,006
nsv884038	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	29,929,253	29,929,828	29,937,541	29,937,740
nsv884038	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_4	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	1,227,847	1,227,847	1,236,317	1,236,317
nsv884038	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_5	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	1,311,116	1,311,116	1,319,591	1,319,591
nsv884038	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	30,037,232	30,037,807	30,045,520	30,045,719

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1559566	copy number loss	MS24032	SNP array	SNP genotyping analysis	12

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv1559566	Remapped	Good	NT_167246.2:g.(122 2227_1222227)_(123 0697_1230697)del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	1,222,227	1,222,227	1,230,697	1,230,697
nssv1559566	Remapped	Good	NT_167247.2:g.(130 5531_1305531)_(131 4006_1314006)del	GRCh38.p12	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	1,305,531	1,305,531	1,314,006	1,314,006
nssv1559566	Remapped	Perfect	NC_000006.12:g.(29 961476_29962051)_( 29969764_29969963) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,961,476	29,962,051	29,969,764	29,969,963
nssv1559566	Remapped	Good	NT_167246.1:g.(122 7847_1227847)_(123 6317_1236317)delNT _167246.1:g.(12278 47_1227847)_(12363 17_1236317)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	1,227,847	1,227,847	1,236,317	1,236,317
nssv1559566	Remapped	Good	NT_167247.1:g.(131 1116_1311116)_(131 9591_1319591)delNT _167247.1:g.(13111 16_1311116)_(13195 91_1319591)del	GRCh37.p13	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	1,311,116	1,311,116	1,319,591	1,319,591
nssv1559566	Remapped	Perfect	NC_000006.11:g.(29 929253_29929828)_( 29937541_29937740) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	29,929,253	29,929,828	29,937,541	29,937,740
nssv1559566	Submitted genomic		NC_000006.10:g.(30 037232_30037807)_( 30045520_30045719) del	NCBI36 (hg18)		NC_000006.10	Chr6	30,037,232	30,037,807	30,045,520	30,045,719

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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