A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697018



Internal ID15086984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75557847..75631459hg38UCSC Ensembl
Innerchr17:73553928..73627539hg19UCSC Ensembl
Innerchr17:71065523..71139134hg18UCSC Ensembl
Innerchr17:71065523..71139134hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3873613
hg1973612
hg1873612
hg1773612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516133
Supporting Variants
Samples
Known GenesLLGL2, MYO15B, RECQL5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697018
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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