A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3752806



Internal ID18704401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5845695..5987075hg38UCSC Ensembl
Innerchr7:5885326..6026706hg19UCSC Ensembl
Innerchr7:5851852..5993232hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38141381
hg19141381
hg18141381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017061
Supporting Variants
Samples
Known GenesCCZ1, OCM, PMS2, RSPH10B, RSPH10B2, ZNF815P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3752806
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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