A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945808



Internal ID18245972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19305989..19309381hg38UCSC Ensembl
Innerchr1:19632483..19635875hg19UCSC Ensembl
Innerchr1:19505070..19508462hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383393
hg193393
hg183393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1755268, nssv1755262, nssv1755267, nssv1755270, nssv1755266, nssv1755269, nssv1755264, nssv1755265, nssv1755263, nssv1755261
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAKR7A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945808
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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