A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703017



Internal ID15092983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43540257..43580248hg38UCSC Ensembl
Innerchr1:44005928..44045919hg19UCSC Ensembl
Innerchr1:43778515..43818506hg18UCSC Ensembl
Innerchr1:43675021..43715012hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3839992
hg1939992
hg1839992
hg1739992
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)nssv703017
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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