A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674625



Internal ID15064591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43540257..43606395hg38UCSC Ensembl
Innerchr1:44005928..44072066hg19UCSC Ensembl
Innerchr1:43778515..43844653hg18UCSC Ensembl
Innerchr1:43675021..43741159hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3866139
hg1966139
hg1866139
hg1766139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519570
Supporting Variants
Samples
Known GenesPTPRF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674625
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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