A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3474047



Internal ID18719103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16679227..16931176hg38UCSC Ensembl
Innerchr1:17005722..17257671hg19UCSC Ensembl
Innerchr1:16878309..17130258hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38251950
hg19251950
hg18251950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006962
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)nssv3474047
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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