A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004307



Internal ID16950573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92347874..92348048hg38UCSC Ensembl
Outerchr13:93000127..93000301hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958151
Supporting Variants
SamplesBILGI_BIOE
Known GenesGPC5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004307
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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