A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987046



Internal ID19212787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7602240..7604740hg38UCSC Ensembl
Outerchr1:7662300..7664800hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132279
Supporting Variants
SamplesKWS1
Known GenesCAMTA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987046
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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