A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3475592



Internal ID18719889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16627264..16695774hg38UCSC Ensembl
Innerchr1:16953759..17022269hg19UCSC Ensembl
Innerchr1:16826346..16894856hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3868511
hg1968511
hg1868511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997494
Supporting Variants
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3475592
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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