A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984440



Internal ID18868225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9161904..9162011hg38UCSC Ensembl
Outerchr17:9065221..9065328hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126209
Supporting Variants
SamplesKWS1
Known GenesNTN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984440
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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