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dbVar

Database of genomic structural variation

nsv3170171

Organism: Homo sapiens

Study:nstd156 (Fu et al. 2018)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:19,134

Publication(s):Fu et al. 2018

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: 713 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):29,953,350-29,972,483

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
nsv3170171	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	29,953,350	29,953,446	29,971,000	29,972,483
nsv3170171	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	1,214,110	1,214,110	1,233,217	1,233,217
nsv3170171	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	1,297,458	1,297,458	1,316,526	1,316,526
nsv3170171	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	29,921,127	29,921,223	29,938,777	29,940,260
nsv3170171	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_4	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	1,219,730	1,219,730	1,238,837	1,238,837
nsv3170171	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_5	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	1,303,043	1,303,043	1,322,111	1,322,111
nsv3170171	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	30,029,106	30,029,202	30,046,756	30,048,239

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv14244347	deletion	NGO_13	SNP array	SNP genotyping analysis	1	109

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv14244347	Remapped	Good	NT_167246.2:g.(121 4110_1214110)_(123 3217_1233217)del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	1,214,110	1,214,110	1,233,217	1,233,217
nssv14244347	Remapped	Good	NT_167247.2:g.(129 7458_1297458)_(131 6526_1316526)del	GRCh38.p12	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	1,297,458	1,297,458	1,316,526	1,316,526
nssv14244347	Remapped	Perfect	NC_000006.12:g.(29 953350_29953351)_( 29971000_29972483) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,953,350	29,953,351	29,971,000	29,972,483
nssv14244347	Remapped	Good	NT_167246.1:g.(121 9730_1219730)_(123 8837_1238837)delNT _167246.1:g.(12197 30_1219730)_(12388 37_1238837)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	1,219,730	1,219,730	1,238,837	1,238,837
nssv14244347	Remapped	Good	NT_167247.1:g.(130 3043_1303043)_(132 2111_1322111)delNT _167247.1:g.(13030 43_1303043)_(13221 11_1322111)del	GRCh37.p13	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	1,303,043	1,303,043	1,322,111	1,322,111
nssv14244347	Remapped	Perfect	NC_000006.11:g.(29 921127_29921128)_( 29938777_29940260) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	29,921,127	29,921,128	29,938,777	29,940,260
nssv14244347	Submitted genomic		NC_000006.10:g.(30 029106_30029107)_( 30046756_30048239) del	NCBI36 (hg18)		NC_000006.10	Chr6	30,029,106	30,029,107	30,046,756	30,048,239

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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