A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024040



Internal ID21156580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36958153..36958439hg38UCSC Ensembl
chr1:37423754..37424040hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057333
Supporting Variants
SamplesCHM1
Known GenesGRIK3
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nssv14024040
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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