A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001158



Internal ID18743689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110097146..110226092hg38UCSC Ensembl
Innerchr2:110854723..110983669hg19UCSC Ensembl
Innerchr2:110212012..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38128947
hg19128947
hg18128947
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4044n100
Supporting Variantsnssv3580190, nssv3580191, nssv3729192, nssv3729194, nssv3580193, nssv3580192, nssv3729193, nssv3580194
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001158
Frequency
Sample Size29084
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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