A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984423



Internal ID18879025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39491728..39492328hg38UCSC Ensembl
Outerchr1:39957400..39958000hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126194
Supporting Variants
SamplesKWS1
Known GenesBMP8A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984423
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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