A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586908



Internal ID18538503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233649811..234587181hg38UCSC Ensembl
Innerchr2:234558457..235495825hg19UCSC Ensembl
Innerchr2:234223196..235160564hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38937371
hg19937369
hg18937369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013712
Supporting Variants
Samples
Known GenesARL4C, DNAJB3, HJURP, LOC100286922, MSL3P1, SPP2, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586908
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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