A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115025



Internal ID18920294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148414469..148414525hg38UCSC Ensembl
Outerchr7:148111561..148111617hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958688, nssv3975587
SamplesKWS1, KWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115025
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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