A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960531



Internal ID18249096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76044208..76046348hg38UCSC Ensembl
Innerchr17:74040289..74042429hg19UCSC Ensembl
Innerchr17:71551884..71554024hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382141
hg192141
hg182141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2110995, nssv2110993, nssv2110999, nssv2110997, nssv2110996, nssv2111000, nssv2110998, nssv2110994, nssv2110992, nssv2110991
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSRP68
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960531
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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