A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135982



Internal ID18902676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32794601..34893593hg38UCSC Ensembl
Outerchr7:32834213..34933205hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382098993
hg192098993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989582
SamplesKWS2
Known GenesBBS9, BMPER, FKBP9, KBTBD2, NPSR1, NPSR1-AS1, NT5C3A, RP9, RP9P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135982
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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