A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130752



Internal ID18937642
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 StatusM
Merged Variants
Supporting Variantsnssv3967072
SamplesKWS2
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
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130752
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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