A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130712



Internal ID19284048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82958829..82958989hg38UCSC Ensembl
Outerchr17:80916705..80916865hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967030
SamplesKWS2
Known GenesB3GNTL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130712
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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