A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701945



Internal ID15091911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75604810..75645634hg38UCSC Ensembl
Innerchr17:73600891..73641714hg19UCSC Ensembl
Innerchr17:71112486..71153309hg18UCSC Ensembl
Innerchr17:71112486..71153309hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3840825
hg1940824
hg1840824
hg1740824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516133
Supporting Variants
Samples
Known GenesMYO15B, RECQL5, SMIM5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701945
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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