A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132281



Internal ID18913874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16540305..16674405hg38UCSC Ensembl
Outerchr1:16866800..17000900hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38134101
hg19134101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n106
Supporting Variantsnssv3987049
SamplesKWS1
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132281
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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