A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482969



Internal ID15582337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48843507..48994527hg38UCSC Ensembl
Innerchr17:46920869..47071889hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38151021
hg19151021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2995997, nssv2995962
Samples
Known GenesATP5G1, CALCOCO2, GIP, SNF8, UBE2Z
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482969
Frequency
Sample Size39
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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