A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989468



Internal ID18880486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95981454..97579645hg38UCSC Ensembl
Outerchr2:96647202..98196108hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381598192
hg191548907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135873
Supporting Variants
SamplesKWS2
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAHD2CP, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC100506123, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989468
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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