A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114979



Internal ID19268872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77695243..77695295hg38UCSC Ensembl
Outerchr7:77324560..77324612hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975952, nssv3958647
SamplesKWS2, KWS1
Known GenesRSBN1L-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114979
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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