A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134676



Internal ID18933494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75360200..75360251hg38UCSC Ensembl
Outerchr17:73356281..73356332hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955343, nssv3969970
SamplesKWS1, KWS2
Known GenesGRB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134676
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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