A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961937



Internal ID18250497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232728689..232730227hg38UCSC Ensembl
Innerchr2:233593399..233594937hg19UCSC Ensembl
Innerchr2:233301643..233303181hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381539
hg191539
hg181539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2223232, nssv2223237, nssv2223240, nssv2223235, nssv2223239, nssv2223238, nssv2223233, nssv2223236, nssv2223234, nssv2223231
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGIGYF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961937
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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