A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975544



Internal ID18892226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82428102..82428173hg38UCSC Ensembl
Outerchr7:82057418..82057489hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124237
Supporting Variants
SamplesKWS2
Known GenesCACNA2D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975544
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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