A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966258



Internal ID18601488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:30884478..30887812hg38UCSC Ensembl
Innerchr4:30886100..30889434hg19UCSC Ensembl
Innerchr4:30495198..30498532hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg383335
hg193335
hg183335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2315671, nssv2315669, nssv2315676, nssv2315675, nssv2315672, nssv2315670, nssv2315673, nssv2315674, nssv2315677, nssv2315668
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDH7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966258
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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