A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2761072



Internal ID17421320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10447438..10871656hg38UCSC Ensembl
Innerchr6:10447671..10871889hg19UCSC Ensembl
Innerchr6:10555657..10979875hg18UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38424219
hg19424219
hg18424219
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966670
Supporting Variants
SamplesHGDP00542
Known GenesC6orf52, GCNT2, MAK, PAK1IP1, TMEM14B, TMEM14C
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2761072
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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