A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434041



Internal ID22491911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99981419..101289122hg38UCSC Ensembl
chr7:99579042..100932403hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381307704
hg191353362
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979182
Supporting Variants
Samples
Known GenesACHE, ACTL6B, AGFG2, AP1S1, AP4M1, AZGP1P1, C7orf43, C7orf61, CLDN15, CNPY4, COPS6, EPHB4, EPO, FBXO24, FIS1, GAL3ST4, GATS, GIGYF1, GNB2, GPC2, LAMTOR4, LRCH4, MBLAC1, MCM7, MEPCE, MIR106B, MIR25, MIR4653, MIR4658, MIR6840, MIR6875, MIR93, MOGAT3, MOSPD3, MUC12, MUC17, NAT16, NYAP1, PCOLCE, PCOLCE-AS1, PILRA, PILRB, PLOD3, PMS2P1, POP7, PPP1R35, PVRIG, PVRIG2P, SAP25, SERPINE1, SLC12A9, SPDYE3, SRRT, STAG3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB, TAF6, TFR2, TRIM56, TRIP6, TSC22D4, UFSP1, VGF, ZAN, ZCWPW1, ZKSCAN1, ZNF3, ZNHIT1, ZSCAN21
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434041
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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