A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114920



Internal ID18925042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:17345080..17345146hg38UCSC Ensembl
Outerchr7:17384704..17384770hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975212, nssv3957812
SamplesKWS1, KWS2
Known GenesAHR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114920
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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