A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133581



Internal ID19257238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44444583..44448883hg38UCSC Ensembl
Outerchr4:44446600..44450900hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969146
SamplesKWS2
Known GenesKCTD8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133581
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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