A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970801



Internal ID18606023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22490785..22499272hg38UCSC Ensembl
Innerchr7:22530404..22538891hg19UCSC Ensembl
Innerchr7:22496929..22505416hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg388488
hg198488
hg188488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2437396, nssv2437397, nssv2437389, nssv2437391, nssv2437394, nssv2437393, nssv2437395, nssv2437390, nssv2437392, nssv2437398
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTEAP1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970801
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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