A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3466995



Internal ID18715373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16864355hg38UCSC Ensembl
Innerchr1:16871266..17190850hg19UCSC Ensembl
Innerchr1:16743853..17063437hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38319585
hg19319585
hg18319585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013996
Supporting Variants
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)nssv3466995
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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