A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697440



Internal ID15434092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174042915..174046620hg38UCSC Ensembl
Innerchr2:174907643..174911348hg19UCSC Ensembl
Innerchr2:174615889..174619594hg18UCSC Ensembl
Innerchr2:174733150..174736855hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383706
hg193706
hg183706
hg173706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520470
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697440
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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