A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144199



Internal ID19254613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128030847..128032547hg38UCSC Ensembl
Outerchr7:127670900..127672600hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994928
SamplesKWS1
Known GenesLRRC4, SND1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144199
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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