A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948007



Internal ID18594853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50655188..50740510hg38UCSC Ensembl
Innerchr10:52414948..52500270hg19UCSC Ensembl
Innerchr10:52084954..52170276hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3885323
hg1985323
hg1885323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1850620, nssv1850629, nssv1850621, nssv1850622, nssv1850626, nssv1850624, nssv1850623, nssv1850625, nssv1850627, nssv1850628
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesASAH2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948007
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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