A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3718870



Internal ID18670465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8816897..8887095hg38UCSC Ensembl
Innerchr16:8910754..8980952hg19UCSC Ensembl
Innerchr16:8818255..8888453hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3870199
hg1970199
hg1870199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036523
Supporting Variants
Samples
Known GenesCARHSP1, PMM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3718870
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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