A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960104



Internal ID18595357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41378044..41379803hg38UCSC Ensembl
Innerchr17:39534296..39536055hg19UCSC Ensembl
Innerchr17:36787822..36789581hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381760
hg191760
hg181760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2096026, nssv2096022, nssv2096020, nssv2096027, nssv2096018, nssv2096023, nssv2096024, nssv2096025, nssv2096019, nssv2096021
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT34
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960104
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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