A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999997



Internal ID18812847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16718951..16931632hg38UCSC Ensembl
Innerchr1:17045446..17258127hg19UCSC Ensembl
Innerchr1:16918033..17130714hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38212682
hg19212682
hg18212682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3463928
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)nsv999997
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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