A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610675



Internal ID16051398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17280178..17297923hg38UCSC Ensembl
Innerchr8:17137687..17155432hg19UCSC Ensembl
Innerchr8:17182058..17199803hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3817746
hg1917746
hg1817746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107309
Samples
Known GenesMTMR7, VPS37A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610675
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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