A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122196



Internal ID18929699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60677841..60679841hg38UCSC Ensembl
Outerchr8:61590400..61592400hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969638
SamplesKWS2
Known GenesCHD7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122196
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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