A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975506



Internal ID18610714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63871726..63874571hg38UCSC Ensembl
Innerchr12:64265506..64268351hg19UCSC Ensembl
Innerchr12:62551773..62554618hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg382846
hg192846
hg182846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1935144, nssv1935139, nssv1935138, nssv1935142, nssv1935135, nssv1935137, nssv1935141, nssv1935140, nssv1935136, nssv1935143
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSRGAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975506
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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