A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977948



Internal ID18613153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29236458..29251381hg38UCSC Ensembl
Innerchr16:29247779..29262702hg19UCSC Ensembl
Innerchr16:29155280..29170203hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814924
hg1914924
hg1814924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054188, nssv2054186, nssv2054193, nssv2054191, nssv2054189, nssv2054185, nssv2054187, nssv2054190, nssv2054194, nssv2054192
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977948
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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