A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977749



Internal ID18612955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:83041978..83045878hg38UCSC Ensembl
Innerchr15:83710730..83714630hg19UCSC Ensembl
Innerchr15:81501734..81505634hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg383901
hg193901
hg183901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2034736, nssv2034740, nssv2034742, nssv2034737, nssv2034745, nssv2034744, nssv2034738, nssv2034743, nssv2034739, nssv2034741
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBTBD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977749
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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