A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150642



Internal ID19196224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41184552..41184684hg38UCSC Ensembl
Outerchr17:39340804..39340936hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996117
SamplesKWB1
Known GenesKRTAP4-1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150642
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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