A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946606



Internal ID18246770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205350925..205352696hg38UCSC Ensembl
Innerchr1:205320053..205321824hg19UCSC Ensembl
Innerchr1:203586676..203588447hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381772
hg191772
hg181772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814431, nssv1814432, nssv1814430, nssv1814428, nssv1814433, nssv1814429, nssv1814435, nssv1814437, nssv1814434, nssv1814436
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKLHDC8A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946606
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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