A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999915



Internal ID18812765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112817523..113142211hg38UCSC Ensembl
Innerchr1:113360145..113684833hg19UCSC Ensembl
Innerchr1:113161668..113486356hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38324689
hg19324689
hg18324689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485018
Samples
Known GenesAKR7A2P1, LOC100996251, LOC100996702, LRIG2, SLC16A1, SLC16A1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999915
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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