A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004102



Internal ID18746633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112753183..113008588hg38UCSC Ensembl
Innerchr1:113295805..113551210hg19UCSC Ensembl
Innerchr1:113097328..113352733hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38255406
hg19255406
hg18255406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487636
Samples
Known GenesAKR7A2P1, LOC100996702, 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)nsv1004102
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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