A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3472323



Internal ID18718227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16679227..16932813hg38UCSC Ensembl
Innerchr1:17005722..17259308hg19UCSC Ensembl
Innerchr1:16878309..17131895hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38253587
hg19253587
hg18253587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011447
Supporting Variants
Samples
Known GenesCROCC, ESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3472323
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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