A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987049



Internal ID18874088
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 StatusS
Merged Variantsnsv1132281
Supporting Variants
SamplesKWS1
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987049
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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