A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672714



Internal ID15062680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140848414..140852761hg38UCSC Ensembl
Innerchr5:140227999..140232346hg19UCSC Ensembl
Innerchr5:140208183..140212530hg18UCSC Ensembl
Innerchr5:140208183..140212530hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384348
hg194348
hg184348
hg174348
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515909
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672714
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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