A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694873



Internal ID15431525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175140381..175182047hg38UCSC Ensembl
Innerchr1:175109517..175151183hg19UCSC Ensembl
Innerchr1:173376140..173417806hg18UCSC Ensembl
Innerchr1:171841174..171882840hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3841667
hg1941667
hg1841667
hg1741667
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522101
Supporting Variants
Samples
Known GenesKIAA0040, TNN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694873
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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