A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126539



Internal ID19275288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8835370..8840470hg38UCSC Ensembl
Outerchr2:8975500..8980600hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984793
SamplesKWS1
Known GenesKIDINS220
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126539
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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