A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001977



Internal ID18744508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16890896..17010370hg38UCSC Ensembl
Innerchr1:17217391..17336865hg19UCSC Ensembl
Innerchr1:17089978..17209452hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38119475
hg19119475
hg18119475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv108n100
Supporting Variantsnssv3463270
Samples
Known GenesATP13A2, CROCC, MFAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001977
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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