A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675620



Internal ID15065586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43544900..43602188hg38UCSC Ensembl
Innerchr1:44010571..44067859hg19UCSC Ensembl
Innerchr1:43783158..43840446hg18UCSC Ensembl
Innerchr1:43679664..43736952hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3857289
hg1957289
hg1857289
hg1757289
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)nssv675620
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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