A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000649



Internal ID18843313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:87360364..90256525hg38UCSC Ensembl
Outerchr2:87587487..90295386hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382896162
hg192707900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148611
Supporting Variants
SamplesKWB1
Known GenesANKRD36BP2, EIF2AK3, FABP1, FOXI3, KRCC1, LINC00152, MIR4435-1, MIR4435-2, MIR4436A, MIR4780, PLGLB1, PLGLB2, RGPD1, RGPD2, RPIA, SMYD1, TEX37, THNSL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000649
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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