A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126462



Internal ID18932425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46077834..46087834hg38UCSC Ensembl
Outerchr17:44155200..44165200hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984711
SamplesKWS1
Known GenesKANSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126462
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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