A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126562



Internal ID18938157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:120350424..120352224hg38UCSC Ensembl
Outerchr2:121108000..121109800hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984818
SamplesKWS1
Known GenesINHBB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126562
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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