A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670784



Internal ID15060750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8861779..8990417hg38UCSC Ensembl
Innerchr2:9001909..9130546hg19UCSC Ensembl
Innerchr2:8919360..9047997hg18UCSC Ensembl
Innerchr2:8952507..9081144hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38128639
hg19128638
hg18128638
hg17128638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517367
Supporting Variants
Samples
Known GenesMBOAT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670784
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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