A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990175



Internal ID19228374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134644054..134644654hg38UCSC Ensembl
Outerchr9:137535900..137536500hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137675
Supporting Variants
SamplesKWS2
Known GenesCOL5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990175
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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