A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700367



Internal ID15437019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55388230..55392787hg38UCSC Ensembl
Innerchr2:55615366..55619923hg19UCSC Ensembl
Innerchr2:55468870..55473427hg18UCSC Ensembl
Innerchr2:55527017..55531574hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384558
hg194558
hg184558
hg174558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524437
Supporting Variants
Samples
Known GenesCCDC88A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700367
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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