A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969344



Internal ID18604571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2332018..2344649hg38UCSC Ensembl
Innerchr6:2332252..2344883hg19UCSC Ensembl
Innerchr6:2277251..2289882hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3812632
hg1912632
hg1812632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2390407, nssv2391204, nssv2391206, nssv2390406, nssv2390410, nssv2390411, nssv2390408, nssv2390409, nssv2390405, nssv2391205
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGMDS-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969344
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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