A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967666



Internal ID18882345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145217795..145258060hg38UCSC Ensembl
Outerchr1:144342700..144380600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3840266
hg1937901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130965
Supporting Variants
SamplesKWS2
Known GenesLOC100288142, PPIAL4A, PPIAL4B, PPIAL4C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967666
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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