A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133485



Internal ID19283431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127885326..127885926hg38UCSC Ensembl
Outerchr2:128642900..128643500hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969045
SamplesKWS2
Known GenesAMMECR1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133485
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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