A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985200



Internal ID19212984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127612321..127613021hg38UCSC Ensembl
Outerchr9:130374600..130375300hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126921
Supporting Variants
SamplesKWS1
Known GenesSTXBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985200
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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