A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705554



Internal ID15442206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175171183..175182047hg38UCSC Ensembl
Innerchr1:175140319..175151183hg19UCSC Ensembl
Innerchr1:173406942..173417806hg18UCSC Ensembl
Innerchr1:171871976..171882840hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3810865
hg1910865
hg1810865
hg1710865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528874
Supporting Variants
Samples
Known GenesKIAA0040
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705554
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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