A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981533



Internal ID18616730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74973810..75017626hg38UCSC Ensembl
Innerchr7:74814614..74858495hg19UCSC Ensembl
Innerchr7:74652550..74696431hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3843817
hg1943882
hg1843882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2464360, nssv2464359, nssv2464365, nssv2464358, nssv2464356, nssv2464363, nssv2464362, nssv2464364, nssv2464361, nssv2464357
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981533
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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