A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696551



Internal ID15086517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:141385714..141388745hg38UCSC Ensembl
Innerchr7:141085514..141088545hg19UCSC Ensembl
Innerchr7:140731983..140735014hg18UCSC Ensembl
Innerchr7:140538698..140541729hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383032
hg193032
hg183032
hg173032
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519080
Supporting Variants
Samples
Known GenesTMEM178B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696551
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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