A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970105



Internal ID18605329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31163935..31166130hg38UCSC Ensembl
Innerchr6:31131712..31133907hg19UCSC Ensembl
Innerchr6:31239691..31241886hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382196
hg192196
hg182196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2402613, nssv2402611, nssv2402612, nssv2402619, nssv2402616, nssv2402615, nssv2402614, nssv2402610, nssv2402617, nssv2402618
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOU5F1, TCF19
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970105
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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