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dbVar

Database of genomic structural variation

nsv438358

Organism: Homo sapiens

Study:nstd20 (McCarroll et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI34 (hg16)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:29,905

Publication(s):McCarroll et al. 2006

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: 492 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):87,187,089-87,216,993

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv438358	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	87,187,089	87,216,993
nsv438358	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	87,414,212	87,444,116
nsv438358	Submitted genomic		NCBI34 (hg16)	Primary Assembly		GPC_000000200.1	Chr2	87,388,752	87,418,656

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv471023	copy number loss	NA12239	SNP array	SNP genotyping analysis	16
nssv471025	copy number loss	NA10847	SNP array	SNP genotyping analysis	16
nssv471019	copy number loss	NA12146	SNP array	SNP genotyping analysis	9
nssv471020	copy number loss	NA10847	SNP array	SNP genotyping analysis	16
nssv471021	copy number loss	NA12239	SNP array	SNP genotyping analysis	16
nssv471022	copy number loss	NA10847	SNP array	SNP genotyping analysis	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv471023	Remapped	Perfect	NC_000002.12:g.(?_ 87187089)_(8719768 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	87,187,089	87,197,687
nssv471025	Remapped	Perfect	NC_000002.12:g.(?_ 87187089)_(8719768 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	87,187,089	87,197,687
nssv471019	Remapped	Perfect	NC_000002.12:g.(?_ 87189961)_(8721699 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	87,189,961	87,216,993
nssv471020	Remapped	Perfect	NC_000002.12:g.(?_ 87189961)_(8721699 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	87,189,961	87,216,993
nssv471021	Remapped	Perfect	NC_000002.12:g.(?_ 87189961)_(8721699 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	87,189,961	87,216,993
nssv471022	Remapped	Perfect	NC_000002.12:g.(?_ 87189961)_(8721699 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	87,189,961	87,216,993
nssv471023	Remapped	Perfect	NC_000002.11:g.(?_ 87414212)_(8742481 0_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	87,414,212	87,424,810
nssv471025	Remapped	Perfect	NC_000002.11:g.(?_ 87414212)_(8742481 0_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	87,414,212	87,424,810
nssv471019	Remapped	Perfect	NC_000002.11:g.(?_ 87417084)_(8744411 6_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	87,417,084	87,444,116
nssv471020	Remapped	Perfect	NC_000002.11:g.(?_ 87417084)_(8744411 6_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	87,417,084	87,444,116
nssv471021	Remapped	Perfect	NC_000002.11:g.(?_ 87417084)_(8744411 6_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	87,417,084	87,444,116
nssv471022	Remapped	Perfect	NC_000002.11:g.(?_ 87417084)_(8744411 6_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	87,417,084	87,444,116
nssv471023	Submitted genomic		GPC_000000200.1:g. (?_87388752)_(8739 9350_?)del	NCBI34 (hg16)		GPC_000000200.1	Chr2	87,388,752	87,399,350
nssv471025	Submitted genomic		GPC_000000200.1:g. (?_87388752)_(8739 9350_?)del	NCBI34 (hg16)		GPC_000000200.1	Chr2	87,388,752	87,399,350
nssv471019	Submitted genomic		GPC_000000200.1:g. (?_87391624)_(8741 8656_?)del	NCBI34 (hg16)		GPC_000000200.1	Chr2	87,391,624	87,418,656
nssv471020	Submitted genomic		GPC_000000200.1:g. (?_87391624)_(8741 8656_?)del	NCBI34 (hg16)		GPC_000000200.1	Chr2	87,391,624	87,418,656
nssv471021	Submitted genomic		GPC_000000200.1:g. (?_87391624)_(8741 8656_?)del	NCBI34 (hg16)		GPC_000000200.1	Chr2	87,391,624	87,418,656
nssv471022	Submitted genomic		GPC_000000200.1:g. (?_87391624)_(8741 8656_?)del	NCBI34 (hg16)		GPC_000000200.1	Chr2	87,391,624	87,418,656

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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