A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057008



Internal ID18799539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41832887..41885423hg38UCSC Ensembl
Innerchr17:39989139..40041676hg19UCSC Ensembl
Innerchr17:37242665..37295202hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3852537
hg1952538
hg1852538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545112
Samples
Known GenesACLY, KLHL10, KLHL11, NT5C3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057008
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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