A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971093



Internal ID18878613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7113750..7113800hg38UCSC Ensembl
Outerchr17:7017069..7017119hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131297
Supporting Variants
SamplesKWS1
Known GenesASGR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971093
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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