A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979157



Internal ID18614360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187414313..187417166hg38UCSC Ensembl
Innerchr2:188279040..188281893hg19UCSC Ensembl
Innerchr2:187987285..187990138hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382854
hg192854
hg182854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2215704, nssv2215703, nssv2215707, nssv2215699, nssv2215705, nssv2215700, nssv2215701, nssv2215708, nssv2215706, nssv2215702
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCALCRL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979157
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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