A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072005



Internal ID18969571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:87360367..90256528hg38UCSC Ensembl
chr2:87587490..90295389hg19UCSC 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 Variantsnssv3768920
SamplesKWP1
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
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072005
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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