A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699171



Internal ID15435823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:64766066..64769563hg38UCSC Ensembl
Innerchr3:64751742..64755239hg19UCSC Ensembl
Innerchr3:64726782..64730279hg18UCSC Ensembl
Innerchr3:64726782..64730279hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg383498
hg193498
hg183498
hg173498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523418
Supporting Variants
Samples
Known GenesADAMTS9-AS2, MIR548A2, MIR548AN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699171
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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