A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135631



Internal ID19264172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3499147..3499468hg38UCSC Ensembl
Outerchr5:3499261..3499582hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3028n106
Supporting Variantsnssv3968932, nssv3965783
SamplesKWS2, KWS1
Known GenesLINC01019, LOC102467075
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135631
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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