A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981573



Internal ID18616770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:122680313..122682224hg38UCSC Ensembl
Innerchr7:122320367..122322278hg19UCSC Ensembl
Innerchr7:122107603..122109514hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg381912
hg191912
hg181912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2476008, nssv2476007, nssv2476009, nssv2476012, nssv2476010, nssv2476005, nssv2476013, nssv2476011, nssv2476014, nssv2476006
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCADPS2
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981573
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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