A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003999



Internal ID19093216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217489289..217640418hg38UCSC Ensembl
Innerchr1:217662631..217813760hg19UCSC Ensembl
Innerchr1:215729254..215880383hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38151130
hg19151130
hg18151130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3486047
Samples
Known GenesGPATCH2, SPATA17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003999
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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