A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478172



Internal ID18721265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16617106..16785052hg38UCSC Ensembl
Innerchr1:16943601..17111547hg19UCSC Ensembl
Innerchr1:16816188..16984134hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38167947
hg19167947
hg18167947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008595
Supporting Variants
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478172
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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