A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3475219



Internal ID18719697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16604822..16708713hg38UCSC Ensembl
Innerchr1:16931317..17035208hg19UCSC Ensembl
Innerchr1:16803904..16907795hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38103892
hg19103892
hg18103892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007303
Supporting Variants
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3475219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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