A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970907



Internal ID18606129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:96282253..96283602hg38UCSC Ensembl
Innerchr7:95911565..95912914hg19UCSC Ensembl
Innerchr7:95749501..95750850hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381350
hg191350
hg181350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2469161, nssv2469163, nssv2469162, nssv2469168, nssv2469165, nssv2469169, nssv2469167, nssv2469164, nssv2469160, nssv2469166
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC25A13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970907
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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