A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970958



Internal ID18259494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146905691..146913139hg38UCSC Ensembl
Innerchr7:146602783..146610231hg19UCSC Ensembl
Innerchr7:146233716..146241164hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg387449
hg197449
hg187449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2486271, nssv2486269, nssv2486272, nssv2486270, nssv2486274, nssv2486276, nssv2486275, nssv2486277, nssv2486278, nssv2486273
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCNTNAP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970958
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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